Variant report

Variant	rs137939447
Chromosome Location	chr12:124389881-124389882
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr12:124389874-124390272	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr12:124389816-124390178	H1-hESC	embryonic stem cell:	n/a	chr12:124389984-124389995
3	CTCF	chr12:124389844-124390262	K562	blood:	n/a	n/a
4	CTCF	chr12:124389719-124390578	A549	lung:	n/a	n/a
5	CEBPB	chr12:124389821-124390187	HepG2	liver:	n/a	chr12:124389984-124389995
6	CTCF	chr12:124389860-124390010	HFF-Myc	foreskin:	n/a	n/a
7	JUND	chr12:124389720-124390384	HCT-116	colon:	n/a	n/a
8	RAD21	chr12:124389812-124390306	ECC-1	luminal epithelium:	n/a	n/a
9	CTCF	chr12:124389851-124390298	A549	lung:	n/a	n/a
10	MAX	chr12:124389816-124390237	NB4	blood:	n/a	chr12:124390084-124390094
11	FOS	chr12:124389794-124390257	MCF10A-Er-Src	breast:	n/a	n/a
12	CTCF	chr12:124389824-124390402	HCT-116	colon:	n/a	n/a
13	RFX5	chr12:124389788-124390274	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr12:124389822-124390404	HCT-116	colon:	n/a	n/a
15	CEBPB	chr12:124389816-124390173	A549	lung:	n/a	chr12:124389984-124389995
16	CTCF	chr12:124389849-124390256	K562	blood:	n/a	n/a
17	FOSL2	chr12:124389809-124390317	A549	lung:	n/a	n/a
18	CTCF	chr12:124389850-124390193	K562	blood:	n/a	n/a
19	FOSL2	chr12:124389833-124390408	SK-N-SH	brain:	n/a	n/a
20	USF1	chr12:124389877-124390255	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr12:124389749-124390414	HCT-116	colon:	n/a	n/a
22	TEAD4	chr12:124389800-124390314	HepG2	liver:	n/a	n/a
23	CTCF	chr12:124389877-124390282	MCF-7	breast:	n/a	n/a
24	CTCF	chr12:124389863-124390275	GM12878	blood:	n/a	n/a
25	RAD21	chr12:124389558-124390373	SK-N-SH	brain:	n/a	n/a
26	CTCF	chr12:124389807-124390319	MCF-7	breast:	n/a	n/a
27	CTCF	chr12:124389836-124390280	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr12:124389779-124390221	A549	lung:	n/a	n/a
29	POU2F2	chr12:124389832-124390185	GM12891	blood:	n/a	n/a
30	CEBPB	chr12:124389682-124390301	A549	lung:	n/a	chr12:124389984-124389995
31	RAD21	chr12:124389819-124390276	ECC-1	luminal epithelium:	n/a	n/a
32	CEBPB	chr12:124389783-124390267	MCF-7	breast:	n/a	chr12:124389984-124389995
33	CEBPB	chr12:124389848-124390167	ECC-1	luminal epithelium:	n/a	chr12:124389984-124389995
34	SMC3	chr12:124389674-124390415	SK-N-SH	brain:	n/a	n/a
35	TEAD4	chr12:124389821-124390295	K562	blood:	n/a	n/a
36	RAD21	chr12:124389841-124390249	HepG2	liver:	n/a	n/a
37	RAD21	chr12:124389782-124390281	MCF-7	breast:	n/a	n/a
38	SMC3	chr12:124389845-124390290	HepG2	liver:	n/a	n/a
39	CTCF	chr12:124389670-124390487	SK-N-SH	brain:	n/a	n/a
40	POU2F2	chr12:124389823-124390262	GM12878	blood:	n/a	n/a
41	CTCF	chr12:124389839-124390241	A549	lung:	n/a	n/a
42	FOS	chr12:124389856-124390290	MCF10A-Er-Src	breast:	n/a	n/a
43	RAD21	chr12:124389865-124390255	MCF-7	breast:	n/a	n/a
44	RAD21	chr12:124389843-124390198	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr12:124389863-124390298	HepG2	liver:	n/a	n/a
46	CEBPB	chr12:124389804-124390174	K562	blood:	n/a	chr12:124389984-124389995
47	CEBPB	chr12:124389751-124390130	MCF-7	breast:	n/a	chr12:124389984-124389995
48	MYC	chr12:124389696-124390259	MCF10A-Er-Src	breast:	n/a	chr12:124390084-124390094
49	CTCF	chr12:124389874-124390183	SK-N-SH_RA	brain:	n/a	n/a
50	SMC3	chr12:124389853-124390296	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124387569..124390026-chr12:124455814..124457883,2	MCF-7	breast:
2	chr12:124389600..124390517-chr12:124516534..124517510,2	K562	blood:
3	chr12:124295197..124298095-chr12:124388889..124391568,2	MCF-7	breast:
4	chr12:124369425..124371891-chr12:124388110..124389965,2	MCF-7	breast:
5	chr12:124389629..124391597-chr12:124394347..124396284,2	K562	blood:

No data

Variant related genes	Relation type
DNAH10	TF binding region
ENSG00000178882	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000179195	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv1811815	chr12:124374716-124424636	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1832870	chr12:124374716-124424636	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv522321	chr12:124383950-124424636	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv560499	chr12:124389150-124396816	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124382000-124391400	Weak transcription	Fetal Lung	lung
2	chr12:124384000-124408400	Weak transcription	Fetal Brain Female	brain
3	chr12:124385400-124390200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:124386000-124391400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:124386000-124395800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:124386200-124390800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:124386200-124392000	Weak transcription	NH-A	brain
8	chr12:124386200-124392200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:124386200-124394000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:124386800-124391800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:124387200-124392000	Weak transcription	Fetal Thymus	thymus
12	chr12:124388400-124391800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:124389600-124390000	Weak transcription	Fetal Kidney	kidney
14	chr12:124389600-124390400	Enhancers	Fetal Intestine Small	intestine
15	chr12:124389800-124390000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:124389800-124390000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:124389800-124390000	Enhancers	HMEC	breast
18	chr12:124389800-124390400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:124389800-124390400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:124389800-124390400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr12:124389800-124390400	Enhancers	Brain Cingulate Gyrus	brain
22	chr12:124389800-124390400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr12:124389800-124390400	Enhancers	NHDF-Ad	bronchial

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